Mark's Story

Medical Imaging Oversight

For decades, radiologists failed to identify panlobular emphysema on Mark's numerous x-rays, CT scans, and MRIs. It wasn't until February 26, 2018, that a radiologist at Broadlawns Hospital finally recognized the telltale signs of this condition. This crucial diagnosis prompted Mark to request testing for Alpha-1 Antitrypsin Deficiency (AATD), confirming his own research-based suspicion.

When previous imaging was reviewed, the panlobular emphysema was clearly visible—it had been there all along. This revelation became a driving force for our foundation's mission: to educate the medical community about this rare form of emphysema that affects both smokers and non-smokers alike.

Blood Test Paradox

• For three decades before his AATD diagnosis, Mark's blood work consistently returned within normal ranges on annual physicals and multiple life insurance examinations.
• Despite perfect test results, Mark suffered from a persistent cough and chronic pain, leading many physicians to dismiss him as a hypochondriac.
• Throughout 30 years of complaints and multiple chest x-rays, no physician considered testing for Alpha-1 Antitrypsin Deficiency—until Mark insisted on it in 2018, based on his own extensive research. At that time, only 8,000 people worldwide had been identified with AATD.

The Pain Factor

Over 30 years, Mark endured three no-fault auto accidents, including two incidents where distracted drivers texting at the wheel struck his stationary vehicle at high speeds. These collisions resulted in multiple broken bones and injuries affecting his right knee, right shoulder, head, neck, and back.

For years, his deteriorating health and chronic pain were attributed solely to these accidents. However, the underlying cause was far more significant: without adequate Alpha-1 Antitrypsin—a crucial protease inhibitor—Mark's body couldn't control inflammation properly. Neutrophils, which normally fight bacteria and infection, were instead prolonging inflammation and causing unnecessary, extended pain throughout his body.

Mark's Remarkable Recovery with Alpha-1 Antitrypsin Therapy

Since beginning Alpha-1 Antitrypsin augmentation therapy, Mark has experienced a profound improvement in both his health and quality of life.

Restored Mobility and Independence: Once largely confined by disability and rapid physical decline, Mark has regained his independence and returned to being an active contributor to his community. Significant Healthy Weight Gain: At the time of diagnosis, Mark's weight had fallen to a concerning 149 pounds. Through treatment and recovery, he has regained strength and now maintains a healthy weight of approximately 200 pounds.

Near-Complete Resolution of Chronic Cough: A persistent and debilitating cough, once a daily burden, has improved by more than 95%, significantly enhancing his comfort and quality of life. Stabilized Lung Function: Perhaps most remarkably, the progressive decline in Mark's lung function has been halted. Pulmonary function testing conducted in 2022 showed results comparable to those recorded four years earlier, demonstrating an unusual degree of disease stabilization.

Renewed Hope and Emotional Well-Being: Feelings of depression, uncertainty, and hopelessness have been replaced by a renewed sense of purpose, optimism, and enthusiasm for the future. Significant Reduction in Chronic Pain: Mark has experienced meaningful relief from the widespread chronic pain that once affected nearly every aspect of daily life. Restored Strength and Vitality: With improved physical strength, stamina, and overall well-being, Mark has embraced life with renewed energy and determination. Living Proof That Early Diagnosis and Treatment Matter: Mark's recovery illustrates the life-changing impact that proper diagnosis, timely intervention, and Alpha-1 Antitrypsin therapy can have for individuals living with Alpha-1 Antitrypsin Deficiency.